Incidental Mutation 'R1889:Ift122'
ID |
209819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift122
|
Ensembl Gene |
ENSMUSG00000030323 |
Gene Name |
intraflagellar transport 122 |
Synonyms |
C86139, sopb, Wdr10 |
MMRRC Submission |
039910-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1889 (G1)
|
Quality Score |
119 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
115830431-115903660 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 115871382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038234]
[ENSMUST00000112923]
[ENSMUST00000112923]
[ENSMUST00000112925]
[ENSMUST00000141305]
|
AlphaFold |
Q6NWV3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038234
|
SMART Domains |
Protein: ENSMUSP00000045468 Gene: ENSMUSG00000030323
Domain | Start | End | E-Value | Type |
WD40
|
1 |
39 |
7.1e1 |
SMART |
WD40
|
42 |
81 |
7.16e-10 |
SMART |
WD40
|
83 |
120 |
1.54e0 |
SMART |
WD40
|
122 |
160 |
1.43e0 |
SMART |
WD40
|
162 |
208 |
2.29e1 |
SMART |
WD40
|
210 |
249 |
1.91e1 |
SMART |
WD40
|
251 |
290 |
3.45e-3 |
SMART |
WD40
|
448 |
483 |
1.43e1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112923
|
SMART Domains |
Protein: ENSMUSP00000108545 Gene: ENSMUSG00000030323
Domain | Start | End | E-Value | Type |
WD40
|
1 |
39 |
7.1e1 |
SMART |
WD40
|
42 |
81 |
7.16e-10 |
SMART |
WD40
|
83 |
120 |
1.54e0 |
SMART |
WD40
|
122 |
160 |
1.43e0 |
SMART |
Blast:WD40
|
163 |
267 |
3e-46 |
BLAST |
WD40
|
269 |
308 |
1.91e1 |
SMART |
WD40
|
310 |
349 |
3.45e-3 |
SMART |
WD40
|
507 |
542 |
1.43e1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112923
|
SMART Domains |
Protein: ENSMUSP00000108545 Gene: ENSMUSG00000030323
Domain | Start | End | E-Value | Type |
WD40
|
1 |
39 |
7.1e1 |
SMART |
WD40
|
42 |
81 |
7.16e-10 |
SMART |
WD40
|
83 |
120 |
1.54e0 |
SMART |
WD40
|
122 |
160 |
1.43e0 |
SMART |
Blast:WD40
|
163 |
267 |
3e-46 |
BLAST |
WD40
|
269 |
308 |
1.91e1 |
SMART |
WD40
|
310 |
349 |
3.45e-3 |
SMART |
WD40
|
507 |
542 |
1.43e1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112925
|
SMART Domains |
Protein: ENSMUSP00000108547 Gene: ENSMUSG00000030323
Domain | Start | End | E-Value | Type |
WD40
|
1 |
39 |
7.1e1 |
SMART |
WD40
|
42 |
81 |
7.16e-10 |
SMART |
WD40
|
83 |
120 |
1.54e0 |
SMART |
WD40
|
122 |
160 |
1.43e0 |
SMART |
WD40
|
162 |
208 |
2.29e1 |
SMART |
WD40
|
210 |
249 |
1.91e1 |
SMART |
WD40
|
251 |
290 |
3.45e-3 |
SMART |
WD40
|
448 |
483 |
1.43e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124283
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141305
|
SMART Domains |
Protein: ENSMUSP00000138535 Gene: ENSMUSG00000030323
Domain | Start | End | E-Value | Type |
WD40
|
1 |
39 |
7.1e1 |
SMART |
WD40
|
42 |
81 |
7.16e-10 |
SMART |
WD40
|
83 |
120 |
1.54e0 |
SMART |
low complexity region
|
124 |
134 |
N/A |
INTRINSIC |
low complexity region
|
162 |
176 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146950
|
Meta Mutation Damage Score |
0.9499 |
Coding Region Coverage |
- 1x: 97.1%
- 3x: 96.2%
- 10x: 93.6%
- 20x: 88.0%
|
Validation Efficiency |
97% (103/106) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] PHENOTYPE: Homozygotes for a null mutation display embryonic lethality during organogenesis with exencephaly, a ventralized caudal neural tube, preaxial polydactyly, abnormal cilia, and left-right patterning defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
A |
G |
9: 89,034,815 (GRCm39) |
|
noncoding transcript |
Het |
9130008F23Rik |
T |
C |
17: 41,191,193 (GRCm39) |
R79G |
probably damaging |
Het |
Aco1 |
A |
T |
4: 40,164,607 (GRCm39) |
|
probably null |
Het |
Acp6 |
C |
T |
3: 97,073,201 (GRCm39) |
R81W |
probably damaging |
Het |
Agbl1 |
A |
C |
7: 76,239,129 (GRCm39) |
Y543S |
probably damaging |
Het |
Anapc7 |
T |
C |
5: 122,571,539 (GRCm39) |
W205R |
probably damaging |
Het |
Ap1g2 |
T |
A |
14: 55,338,886 (GRCm39) |
M532L |
probably damaging |
Het |
Appl1 |
A |
G |
14: 26,647,470 (GRCm39) |
|
probably benign |
Het |
Arhgef19 |
T |
C |
4: 140,976,624 (GRCm39) |
F462S |
probably damaging |
Het |
Astn1 |
A |
G |
1: 158,332,886 (GRCm39) |
|
probably null |
Het |
AU015836 |
T |
C |
X: 93,012,985 (GRCm39) |
|
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Cadm2 |
T |
C |
16: 66,679,683 (GRCm39) |
D50G |
probably damaging |
Het |
Ccdc81 |
G |
A |
7: 89,531,502 (GRCm39) |
Q324* |
probably null |
Het |
Cd300lf |
A |
G |
11: 115,011,206 (GRCm39) |
V178A |
probably benign |
Het |
Cdt1 |
T |
C |
8: 123,298,791 (GRCm39) |
V476A |
possibly damaging |
Het |
Cenpj |
A |
G |
14: 56,796,182 (GRCm39) |
V225A |
probably benign |
Het |
Cep295 |
T |
C |
9: 15,243,399 (GRCm39) |
T1686A |
possibly damaging |
Het |
Cfap54 |
A |
G |
10: 92,870,572 (GRCm39) |
S684P |
possibly damaging |
Het |
Clip1 |
C |
A |
5: 123,791,559 (GRCm39) |
V204F |
probably damaging |
Het |
Cnpy4 |
A |
G |
5: 138,191,102 (GRCm39) |
E226G |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,731,433 (GRCm39) |
M1000L |
probably benign |
Het |
Cpsf1 |
T |
C |
15: 76,486,356 (GRCm39) |
M335V |
probably benign |
Het |
Dnmt3b |
C |
A |
2: 153,518,679 (GRCm39) |
A614E |
probably benign |
Het |
Dpm1 |
C |
T |
2: 168,059,655 (GRCm39) |
R147Q |
possibly damaging |
Het |
Dpp7 |
G |
T |
2: 25,243,691 (GRCm39) |
|
probably null |
Het |
Engase |
T |
C |
11: 118,369,759 (GRCm39) |
F57S |
probably damaging |
Het |
Epb41l5 |
T |
C |
1: 119,476,902 (GRCm39) |
D718G |
possibly damaging |
Het |
Fam20a |
T |
C |
11: 109,564,380 (GRCm39) |
K458E |
probably benign |
Het |
Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
Gkn2 |
T |
A |
6: 87,355,137 (GRCm39) |
Y115* |
probably null |
Het |
Gtdc1 |
A |
G |
2: 44,481,926 (GRCm39) |
S246P |
probably damaging |
Het |
H2-Q2 |
A |
G |
17: 35,564,152 (GRCm39) |
D302G |
probably benign |
Het |
Herc2 |
C |
T |
7: 55,839,561 (GRCm39) |
S3357L |
possibly damaging |
Het |
Herc6 |
T |
A |
6: 57,639,060 (GRCm39) |
Y840* |
probably null |
Het |
Hoxa10 |
GGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTG |
6: 52,211,472 (GRCm39) |
|
probably benign |
Het |
Ilf3 |
T |
A |
9: 21,316,063 (GRCm39) |
|
probably benign |
Het |
Itgb2 |
A |
T |
10: 77,384,457 (GRCm39) |
N193Y |
possibly damaging |
Het |
Itgb5 |
T |
G |
16: 33,730,839 (GRCm39) |
I65S |
probably damaging |
Het |
Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
Kcnt2 |
A |
T |
1: 140,512,031 (GRCm39) |
H995L |
probably damaging |
Het |
Kif20b |
T |
C |
19: 34,918,608 (GRCm39) |
|
probably benign |
Het |
Kif7 |
T |
C |
7: 79,360,211 (GRCm39) |
Y342C |
probably damaging |
Het |
Klhl21 |
T |
C |
4: 152,099,877 (GRCm39) |
V529A |
possibly damaging |
Het |
Klhl26 |
T |
C |
8: 70,904,383 (GRCm39) |
D475G |
probably damaging |
Het |
Lcor |
T |
C |
19: 41,547,567 (GRCm39) |
Y384H |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,809,179 (GRCm39) |
C2463* |
probably null |
Het |
Marchf6 |
T |
C |
15: 31,459,339 (GRCm39) |
E909G |
possibly damaging |
Het |
Mrc1 |
A |
T |
2: 14,313,488 (GRCm39) |
|
probably null |
Het |
Mtrex |
T |
C |
13: 113,024,024 (GRCm39) |
N707S |
probably benign |
Het |
Nipal4 |
T |
A |
11: 46,041,560 (GRCm39) |
I212F |
probably damaging |
Het |
Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,965,009 (GRCm39) |
E1531G |
possibly damaging |
Het |
Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
Opa1 |
T |
C |
16: 29,444,403 (GRCm39) |
V863A |
possibly damaging |
Het |
Or5ac22 |
T |
G |
16: 59,135,326 (GRCm39) |
Y148S |
probably damaging |
Het |
Pabpc4l |
A |
T |
3: 46,400,798 (GRCm39) |
M282K |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pcnx3 |
T |
C |
19: 5,722,684 (GRCm39) |
D1336G |
probably damaging |
Het |
Phlpp1 |
T |
C |
1: 106,246,580 (GRCm39) |
V590A |
possibly damaging |
Het |
Rbck1 |
T |
A |
2: 152,160,276 (GRCm39) |
T468S |
probably damaging |
Het |
Ripor2 |
T |
A |
13: 24,877,870 (GRCm39) |
I290N |
probably damaging |
Het |
Rnf139 |
T |
C |
15: 58,771,346 (GRCm39) |
L457P |
probably damaging |
Het |
Rtn1 |
C |
A |
12: 72,351,184 (GRCm39) |
A342S |
possibly damaging |
Het |
Sema3d |
A |
G |
5: 12,534,988 (GRCm39) |
|
probably null |
Het |
Serpinb2 |
T |
A |
1: 107,452,337 (GRCm39) |
V305D |
probably damaging |
Het |
Sez6l2 |
T |
C |
7: 126,552,668 (GRCm39) |
V148A |
probably damaging |
Het |
Shank2 |
C |
A |
7: 143,740,595 (GRCm39) |
S568* |
probably null |
Het |
Slc10a4 |
T |
C |
5: 73,169,490 (GRCm39) |
S372P |
possibly damaging |
Het |
Slc10a5 |
T |
C |
3: 10,400,550 (GRCm39) |
T37A |
probably benign |
Het |
Slc14a1 |
T |
C |
18: 78,152,912 (GRCm39) |
I276V |
possibly damaging |
Het |
Slc6a20b |
G |
T |
9: 123,461,269 (GRCm39) |
D52E |
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,601,182 (GRCm39) |
M661T |
probably benign |
Het |
Ssh2 |
C |
G |
11: 77,340,571 (GRCm39) |
D574E |
probably damaging |
Het |
Steap4 |
G |
T |
5: 8,025,892 (GRCm39) |
R151L |
probably damaging |
Het |
Sun5 |
T |
A |
2: 153,707,915 (GRCm39) |
I107L |
probably benign |
Het |
Tacc1 |
C |
T |
8: 25,665,269 (GRCm39) |
V488M |
probably damaging |
Het |
Tgs1 |
A |
G |
4: 3,614,928 (GRCm39) |
T829A |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,914,799 (GRCm39) |
E1929G |
probably damaging |
Het |
Tssc4 |
A |
C |
7: 142,624,292 (GRCm39) |
Q200P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,588,876 (GRCm39) |
W21398R |
probably damaging |
Het |
Usp50 |
C |
T |
2: 126,619,818 (GRCm39) |
|
probably null |
Het |
Usp9y |
A |
T |
Y: 1,448,829 (GRCm39) |
|
probably null |
Het |
V1rd19 |
T |
A |
7: 23,702,632 (GRCm39) |
F33I |
probably benign |
Het |
Zfat |
T |
C |
15: 67,973,388 (GRCm39) |
T1118A |
probably benign |
Het |
|
Other mutations in Ift122 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:Ift122
|
APN |
6 |
115,894,018 (GRCm39) |
missense |
probably benign |
0.10 |
IGL00783:Ift122
|
APN |
6 |
115,882,863 (GRCm39) |
missense |
probably benign |
|
IGL00784:Ift122
|
APN |
6 |
115,882,863 (GRCm39) |
missense |
probably benign |
|
IGL00799:Ift122
|
APN |
6 |
115,854,497 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00908:Ift122
|
APN |
6 |
115,890,870 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01012:Ift122
|
APN |
6 |
115,876,452 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01444:Ift122
|
APN |
6 |
115,861,340 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01451:Ift122
|
APN |
6 |
115,889,565 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01940:Ift122
|
APN |
6 |
115,864,332 (GRCm39) |
splice site |
probably benign |
|
IGL02089:Ift122
|
APN |
6 |
115,902,398 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02331:Ift122
|
APN |
6 |
115,864,285 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02929:Ift122
|
APN |
6 |
115,879,838 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03169:Ift122
|
APN |
6 |
115,882,922 (GRCm39) |
splice site |
probably benign |
|
PIT1430001:Ift122
|
UTSW |
6 |
115,902,705 (GRCm39) |
splice site |
probably benign |
|
R0158:Ift122
|
UTSW |
6 |
115,901,445 (GRCm39) |
splice site |
probably benign |
|
R0496:Ift122
|
UTSW |
6 |
115,882,863 (GRCm39) |
missense |
probably benign |
|
R1065:Ift122
|
UTSW |
6 |
115,852,286 (GRCm39) |
splice site |
probably null |
|
R1670:Ift122
|
UTSW |
6 |
115,900,844 (GRCm39) |
missense |
probably benign |
0.05 |
R1861:Ift122
|
UTSW |
6 |
115,868,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:Ift122
|
UTSW |
6 |
115,901,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R2362:Ift122
|
UTSW |
6 |
115,861,311 (GRCm39) |
missense |
probably damaging |
0.99 |
R2385:Ift122
|
UTSW |
6 |
115,889,483 (GRCm39) |
missense |
probably benign |
0.21 |
R3734:Ift122
|
UTSW |
6 |
115,902,462 (GRCm39) |
splice site |
probably benign |
|
R3800:Ift122
|
UTSW |
6 |
115,902,867 (GRCm39) |
missense |
probably benign |
0.03 |
R3981:Ift122
|
UTSW |
6 |
115,890,882 (GRCm39) |
missense |
probably benign |
0.02 |
R4289:Ift122
|
UTSW |
6 |
115,900,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R4545:Ift122
|
UTSW |
6 |
115,867,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R4546:Ift122
|
UTSW |
6 |
115,867,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R4641:Ift122
|
UTSW |
6 |
115,865,726 (GRCm39) |
nonsense |
probably null |
|
R4815:Ift122
|
UTSW |
6 |
115,858,517 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4854:Ift122
|
UTSW |
6 |
115,839,707 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4928:Ift122
|
UTSW |
6 |
115,892,819 (GRCm39) |
utr 3 prime |
probably benign |
|
R5021:Ift122
|
UTSW |
6 |
115,841,333 (GRCm39) |
missense |
probably benign |
0.41 |
R5121:Ift122
|
UTSW |
6 |
115,889,495 (GRCm39) |
missense |
probably benign |
0.04 |
R5200:Ift122
|
UTSW |
6 |
115,897,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R5549:Ift122
|
UTSW |
6 |
115,868,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R6111:Ift122
|
UTSW |
6 |
115,852,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R6141:Ift122
|
UTSW |
6 |
115,892,972 (GRCm39) |
missense |
probably damaging |
0.99 |
R6766:Ift122
|
UTSW |
6 |
115,903,204 (GRCm39) |
missense |
probably benign |
0.15 |
R7379:Ift122
|
UTSW |
6 |
115,903,263 (GRCm39) |
missense |
probably benign |
|
R7402:Ift122
|
UTSW |
6 |
115,871,283 (GRCm39) |
missense |
probably benign |
0.00 |
R7436:Ift122
|
UTSW |
6 |
115,903,263 (GRCm39) |
missense |
probably benign |
|
R7437:Ift122
|
UTSW |
6 |
115,903,263 (GRCm39) |
missense |
probably benign |
|
R7438:Ift122
|
UTSW |
6 |
115,903,263 (GRCm39) |
missense |
probably benign |
|
R7517:Ift122
|
UTSW |
6 |
115,867,543 (GRCm39) |
missense |
probably benign |
0.37 |
R7978:Ift122
|
UTSW |
6 |
115,897,313 (GRCm39) |
missense |
probably benign |
0.37 |
R8492:Ift122
|
UTSW |
6 |
115,863,966 (GRCm39) |
missense |
probably benign |
0.02 |
R8493:Ift122
|
UTSW |
6 |
115,887,292 (GRCm39) |
missense |
probably benign |
0.01 |
R8669:Ift122
|
UTSW |
6 |
115,900,252 (GRCm39) |
missense |
probably damaging |
0.98 |
R8867:Ift122
|
UTSW |
6 |
115,857,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R8887:Ift122
|
UTSW |
6 |
115,868,880 (GRCm39) |
missense |
probably benign |
0.00 |
R8947:Ift122
|
UTSW |
6 |
115,901,368 (GRCm39) |
missense |
probably benign |
|
R8978:Ift122
|
UTSW |
6 |
115,902,769 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9149:Ift122
|
UTSW |
6 |
115,867,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R9571:Ift122
|
UTSW |
6 |
115,857,628 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9573:Ift122
|
UTSW |
6 |
115,857,646 (GRCm39) |
missense |
probably benign |
|
R9677:Ift122
|
UTSW |
6 |
115,897,357 (GRCm39) |
missense |
probably benign |
0.16 |
Z1176:Ift122
|
UTSW |
6 |
115,892,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTGTTGTCAGAGCCTCACAG -3'
(R):5'- GGCCGATCTTCTTCTCCAGAAAC -3'
Sequencing Primer
(F):5'- TAACAGCGTGGCCTGGAAC -3'
(R):5'- GATCTTCTTCTCCAGAAACACATGG -3'
|
Posted On |
2014-06-30 |